Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3644032013 | Microcephalus, complex motor and sensory axonal neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3644033015 | Microcephaly, complex motor and sensory axonal neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3644034014 | Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6714681000146111 | syndroom van microcefalie en complexe axonale sensomotorische neuropathie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6714691000146113 | syndroom van microcefalie en complexe axonale sensomotorische neuropathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3644037019 | An extremely rare subtype of hereditary motor and sensory neuropathy with characteristics of severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | microcefalie | false | Inferred relationship | Some | ||
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Finding site | Peripheral nervous system structure | false | Inferred relationship | Some | 2 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 1 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Interprets | Birth head circumference | true | Inferred relationship | Some | 2 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR